Duchenne Muscular Dystrophy

Incidence and onset information

Alternative names

Duchenne Muscular Dystrophy Is also known as dmd, duchenne muscular dystrophy, severe dystrophinopathy, duchenne type, muscular dystrophy, pseudohypertrophic progressive, duchenne type.

Researches and researchers

Doctors, researchs, and experts related to Duchenne Muscular Dystrophy extracted from public data.

Duchenne Muscular Dystrophy Experts map

Current Researchs and researchers

• WIEN — Pr Karlheinz HILBER

  Investigator of research project
  
  

  • Institution/s:
    — Medizinische Universität Wien
  • Research area/topic::
    

    Cardiac calcium channel abnormalities in Duchenne Muscular Dystrophy



• — Dr Toshifumi YOKOTA

  Investigator of research project
  
  

  • Institution/s:
    — University of Alberta
  • Research area/topic::
    

    Targeted delivery of antisense-mediated exon skipping therapy in transgenic pig model of DMD



• MONTRÉAL — Dr Christian BEAUSÉJOUR

  Investigator of research project
  
  

  • Institution/s:
    — Centre hospitalier universitaire Sainte-Justine
  • Research area/topic::
    

    An autologous cell therapy approach to treat Duchenne muscular dystrophy using engineered muscle tissue derived from induced pluripotent stem cells.



• MONTRÉAL — Dr Basil J PETROF

  Investigator of research project
  
  

  • Institution/s:
    — McGill University, Meakins-Christie Laboratories
  • Research area/topic::
    

    Strategies for therapy of respiratory muscle failure in muscular dystrophy



• OTTAWA — Dr Michael A RUDNICKI

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Ottawa Hospital Research Institute
  • Research area/topic::
    

    Genetic Regulation of Myogenesis



• OTTAWA, ONTARIO — Dr Bernanrd J JASMIN

  Investigator of research project
  
  

  • Institution/s:
    — University of Ottawa
  • Research area/topic::
    

    Post-transcriptional Regulation of Utrophin in Skeletal Muscle: Implications for New Therapeutic Strategies for Duchenne Muscular Dystrophy



• QUÉBEC — Pr Jacques P. TREMBLAY

  Investigator of research project - Sponsor of clinical trial
  
  

  • Institution/s:
    — Centre de Recherche du Centre Hospitalier Universitaire de Québec, CHUQ - (CHUL) Centre hospitalier de l'Université Laval
    — Centre Hospitalier Universitaire de Québec, CHUQ - (CHUL) Centre hospitalier de l'Université Laval
  • Research area/topic::
    

    Can laminin-111 be used to treat Duchenne Muscular Dystrophy alone or in combination with myoblast transplantation?



• TORONTO — Pr Marc D GRYNPAS

  Investigator of research project
  
  

  • Institution/s:
    — Mount Sinai Hospital
  • Research area/topic::
    

    Growth arrest and osteoporosis in Duchenne muscular dystrophy patients treated with glucocorticoids



• GIF-SUR-YVETTE — Dr Olivier NAMY

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — I2BC - UMR 9198, Institut de Biologie Intégrative de la Cellule (I2BC)
  • Research area/topic::
    

    Rescue_ribosome : Rescue Pathways for unrecycled ribosomes - FR



• NANTES — Dr Oumeya ADJALI

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Université de Nantes
  • Research area/topic::
    

    TOLGEN: In vivo AAV-based gene transfer to the muscle: Deciphering host immune responses - FR



• NANTES — Pr Philippe MOULLIER

  Investigator of research project
  
  

  • Institution/s:
    — Université de Nantes
  • Research area/topic::
    

    Pre-clinical and clinical development of AAV-mediated microdystrophin delivery for gene therapy of DMD



• ORSAY — Dr Cyrille VAILLEND

  Investigator of research project
  
  

  • Institution/s:
    — UMR 9197, CNRS Université Paris-Sud, Université Paris-Sud
  • Research area/topic::
    

    Dystrophins In The Nervous System: From Neurophysiology to Molecular Therapy



• PARIS — Dr Juliette NECTOUX

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — CHU Paris Centre - Hôpital Cochin, Site Cochin
  • Research area/topic::
    

    Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases



• PARIS — Mr David SASSOON

  Coordinator of research network
  
  

  • Institution/s:
    — Université Pierre et Marie Curie - Paris 6
  • Research area/topic::
    

    ENDOSTEM: Activation of vasculature associated stem cells and muscle stem cells for the repair and maintenance of muscle tissue



• PARIS — Dr Fabien LE GRAND

  Investigator of research project
  
  

  • Institution/s:
    — Institut Cochin (INSERM U 1016 - CNRS UMR 8104 - Paris Descartes UMR-S1016)
  • Research area/topic::
    

    SIRD: Stimulating Intrinsic Repair for DMD - FR



• BERLIN — Dr Arpad VON MOERS

  Coordinator of expert centre - Clinical expert - Investigator of research project
  
  

  • Institution/s:
    — DRK Kliniken Berlin Westend
  • Research area/topic::
    

    TAMDMD : Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial -DE-



• ERLANGEN — Pr Regina TROLLMANN

  Coordinator of expert centre - Clinical expert - Investigator of research project
  
  

  • Institution/s:
    — ZSEER - Zentrum für Seltene Erkrankungen Erlangen
  • Research area/topic::
    

    Progression study on the characterization of skeletal muscles by magnetic resonance imaging in Duchenne muscular dystrophy



• FREIBURG — Pr Janbernd KIRSCHNER

  Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Manager of technological platform - Coordinator of research
  
  

  • Institution/s:
    — Universitätsklinikum Freiburg
    — Zentrum für Kinder- und Jugendmedizin Freiburg
    — Zentrum für Kinder- und Jugendmedizin Freiburg
    — Zentrum für Kinder- und Jugendmedizin Freiburg
  • Research area/topic::
    

    PRO-DMD-01: A prospective natural history study of progression of physical impairment, activity limitation and quality of life in Duchenne Muscular Dystrophy



• FERRARA — Pr Alessandra FERLINI

  Coordinator of expert centre - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of laboratory
  
  

  • Institution/s:
    — Dipartimento di Riproduzione e Accrescimento, A.O.U. di Ferrara - Polo Chimico-Bio-Medico
  • Research area/topic::
    

    BIO-NMD: identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of neuromuscular disorders



• FIRENZE — Pr Cecilia FERRANTINI

  Investigator of research project
  
  

  • Institution/s:
    — Università degli studi di Firenze, Università degli studi di Firenze-Dip. di Medicina Sperimentale e Clinica
  • Research area/topic::
    

    A novel in vitro Duchenne Muscular Dystrophy cardiomyopathy model: human iPSC-derived cardiomyocytes for mechanistic studies



• MILANO — Pr Alessandra PEDROCCHI

  Investigator of research project
  
  

  • Institution/s:
    — Politecnico di Milano
  • Research area/topic::
    

    USEFUL: Sistema assistivo centrato sull'utente per il supporto delle funzioni del braccio in soggetti affetti da patologie neuromoscolari



• MILANO — Pr Giulio COSSU

  Principal investigator of clinical trial - Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Divisione di Medicina Rigenerativa, IRCCS Ospedale San Raffaele
  • Research area/topic::
    

    OptiStem: Optimisation of stem cell therapy for clinical trials of degenerative skin and muscle diseases (TERMINATED)



• MILANO — Dr Maria Luisa BIANCHI

  Coordinator of expert centre - Investigator of research project - Manager of registry
  
  

  • Institution/s:
    — Dipartimento di Scienze Mediche e Riabilitative ad indirizzo Endocrino-Metabolico, IRCCS Istituto Auxologico Italiano - Ospedale San Michele
  • Research area/topic::
    

    Evaluation of bone turnover, bone metabolism, bone density, and fractures in children with Duchenne Muscular Dystrophy and possible side effects of long-term corticosteroid therapy (BON-DMD)



• PADOVA — Pr Paolo BONALDO

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Padova- Polo A.Vallisneri
  • Research area/topic::
    

    BIO-NMD: biomarker discovery and validation on animal models (WP5)



• PADOVA — Dr Paola BRAGHETTA

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Padova- Polo A.Vallisneri
  • Research area/topic::
    

    Pre-clinical evaluation of biocompatible nanoparticles as delivery system of 20-methyl-phosphorothioate antisense oligoribonucleotides for exon skippin- mediated dystrophin in restoration



• PADOVA — Dr Stefano SCHIAFFINO

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Padova- Polo A.Vallisneri
  • Research area/topic::
    

    MYORES: Multi-organismic approach to study normal and aberrant muscle development, function and repair



• ROMA — Pr Enrico S. BERTINI

  Coordinator of expert centre - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Contact person of registry - Coordinator of multinational clinical trial - Director of laboratory
  
  

  • Institution/s:
    — Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
    — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
  • Research area/topic::
    

    Assessment of upper limb function in non-ambulatory patients with Duchenne Muscular Dystrophy



• ROMA — Dr Eugenio MERCURI

  Principal investigator of clinical trial - Investigator of research project - Manager of registry
  
  

  • Institution/s:
    — Policlinico Universitario "A. Gemelli"
  • Research area/topic::
    

    Long term natural history in Duchenne muscular dystrophy



• ROMA — Pr BOZZONI IRENE

  Investigator of research project
  
  

  • Institution/s:
    — Sapienza Università di Roma
  • Research area/topic::
    

    RNA-based studies of Duchenne Muscular Dystrophy: post-transcriptional control and role of non coding RNAs in normal and dystrophic muscle development



• ROMA — Dr Viviana MORESI

  Investigator of research project
  
  

  • Institution/s:
    — Sapienza Università di Roma - Sezione di Ricerca "Valdoni Lab"
  • Research area/topic::
    

    Role of HDAC4 in muscular dystrophy and regeneration



• ROMA — Pr MARIKA PANE

  Investigator of research project
  
  

  • Institution/s:
    — Università Cattolica del Sacro Cuore
  • Research area/topic::
    

    Assessment of upper limb function in non ambulant Duchenne muscular dystrophy



• TREVISO — Dr Paolo DE COPPI

  Investigator of research project
  
  

  • Institution/s:
    — Azienda ULSS 9 - Ospedale di Treviso
  • Research area/topic::
    

    Cell therapy for muscle dystrophies: delivery of myogenic precursor cells and amniotic stem cells via polymeric scaffolds



• LEIDEN — Dr P.A.C. [Peter-Bram] 'T HOEN

  Investigator of research project
  
  

  • Institution/s:
    — LUMC - Leids Universitair Medisch Centrum
  • Research area/topic::
    

    BIO-NMD: exploratory biomarker validation in humans (WP4)



• LEIDEN — Pr G.J.B. [GertJan] VAN OMMEN

  Investigator of research project
  
  

  • Institution/s:
    — LUMC - Leids Universitair Medisch Centrum
  • Research area/topic::
    

    Antisense therapy for several major rare diseases



• LEIDEN — Pr E. [Bert] BAKKER

  Investigator of research project
  
  

  • Institution/s:
    — Afdeling Klinische Genetica, LUMC - Leids Universitair Medisch Centrum
  • Research area/topic::
    

    Do women from families with a Duchenne patient know that they can be a carrier and are possibly at risk for having a son with Duchenne musclular dystrophy?



• LEIDEN — Pr M.H. [Martijn] BREUNING

  Clinical expert - Investigator of research project - Director of department
  
  

  • Institution/s:
    — Afdeling Klinische Genetica, LUMC - Leids Universitair Medisch Centrum
    — LUMC - Leids Universitair Medisch Centrum
    — LUMC - Leids Universitair Medisch Centrum
  • Research area/topic::
    

    Do women from families with a Duchenne patient know that they can be a carrier and are possibly at risk for having a son with Duchenne musclular dystrophy?



• NIJMEGEN — Dr I.J.M [Imelda] DE GROOT

  Principal investigator of clinical trial - Investigator of research project
  
  

  • Institution/s:
    — Radboudumc - Oost
  • Research area/topic::
    

    Development of an exoskeleton for the arms for boys with Duchenne Muscular Dystrophy



• BARAKALDO — Dr Virginia ARECHAVALA GOMEZA

  Investigator of research project
  
  

  • Institution/s:
    — Instituto de Investigación sanitaria BioCruces
  • Research area/topic::
    

    QUADRES: QUAntification of Dystrophin Restoration by Exon Skippping



• SANTIAGO DE COMPOSTELA — Dr Jesús PÉREZ CAMIÑA

  Investigator of research project
  
  

  • Institution/s:
    — IDIS - Instituto de Investigación Sanitaria de Santiago de Compostela
  • Research area/topic::
    

    Regenerative potential of the obestatin/GPR39 system on the treatment of pathologies characterized by muscle atrophy



• BASEL — Pr Dirk FISCHER

  Clinical expert - Coordinator of research network
  
  

  • Institution/s:
    — University of Basel Children's Hospital
    — Universitäts-Kinderspital beider Basel UKBB
  • Research area/topic::
    

    TAMDMD : Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial



• EDINBURGH — Ms Claire L WOOD

  Investigator of research project
  
  

  • Institution/s:
    — University of Edinburgh
  • Research area/topic::
    

    Characterisation of skeletal development and the use of anabolic agents in murine models of Duchenne muscular dystrophy



• EGHAM — Pr George DICKSON

  Investigator of research project
  
  

  • Institution/s:
    — Royal Holloway, University of London
  • Research area/topic::
    

    Enhancing the Therapeutic Functionality of Adeno-associated Virus (AAV) Vectors Encoding Dystrophin for Duchenne Muscular Dystrophy Gene Therapy



• GLASGOW — Pr Faisal S AHMED

  Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry
  
  

  • Institution/s:
    — University of Glasgow, Royal Hospital For Children, NHS Greater Glasgow & Clyde
    — RHC & QEUH Campus, Greater Glasgow & Clyde NHS Health Board, Queen Elizabeth University Hospital Campus
    — RHC & QEUH Campus, Greater Glasgow & Clyde NHS Health Board, Queen Elizabeth University Hospital Campus
    — South Glasgow University Hospital, Royal Hospital For Children, NHS Greater Glasgow & Clyde
    — University of Glasgow, Kelvin Building
  • Research area/topic::
    

    Secondary Osteoporosis and Its Therapy in Duchenne Muscular Dystrophy (ScOT-DMD)



• LONDON — Pr Francesco MUNTONI

  Coordinator of expert centre - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of expert centre network - Coordinator of research network
  
  

  • Institution/s:
    — UCL Institute of Child Health, University College London
    — Department of Paediatrics, Hammersmith Hospital
  • Research area/topic::
    

    Advances in oligonucleotide-mediated exonskipping for DMD and related disorders - WP3 - Natural history extension



• LONDON — Ms Emma PENDLETON

  Investigator of research project
  
  

  • Institution/s:
    — University College London Hospitals, NHS Foundation Trust
  • Research area/topic::
    

    Neuromuscular Rare Disease Translational Research in patients with Duchenne Muscular Dystrophy



• NEWCASTLE UPON TYNE — Pr Olav VELDHUIZEN

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
  • Research area/topic::
    

    BIOIMAGE-Neuromuscular Diseases



• OXFORD — Pr Kay E DAVIES

  Investigator of research project
  
  

  • Institution/s:
    — Department of Physiology Anatomy & Genetics, Le Gros Clark Building - University of Oxford
    — University of Oxford
  • Research area/topic::
    

    MICA: The role of utrophin in DMD and its therapeutic potential



• OXFORD — Pr Matthew J WOOD

  Investigator of research project
  
  

  • Institution/s:
    — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
    — University of Oxford
  • Research area/topic::
    

    Antisense nucleic acid splice correction therapy for Duchenne muscular dystrophy and related disorders



• SHEFFIELD — Pr Steve WINDER

  Investigator of research project
  
  

  • Institution/s:
    — Firth Court, University of Sheffield
  • Research area/topic::
    

    Regulation of dystroglycan function and its implications in Duchenne Muscular Distrophy

Duchenne Muscular Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...) View the complete list with 612 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Close Specificity 1 % Genes 13 %
TGFB1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). TGFB1 Specificity 100 % Genes 13 %
TGFB1 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). TGFB1 Specificity 100 % Genes 13 %
TGFB1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). TGFB1 Specificity 100 % Genes 13 %
TGFB1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). TGFB1 Specificity 100 % Genes 13 %
Camurati-Engelmann disease (sequence analysis TGFB1 of gene). By CGC Genetics (Portugal). TGFB1 Specificity 100 % Genes 13 %
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TGFB1 Specificity 100 % Genes 13 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Close Specificity 1 % Genes 13 %

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